Epilepsy affects tens of millions of people worldwide, both directly and indirectly. For those who witness a seizure, the event is disturbing but, generally, brief. However, for those who have epilepsy or know someone with a seizure disorder, it is a constant in their lives, affecting the way that they view the world and the way that the world views them.
F.a.c.e.s. (Finding a Cure for Epilepsy and Seizures), at New York University (NYU) Medical Center, New York, NY, is a charitable organization within the NYU Epilepsy Center. The mission of f.a.c.e.s. is to improve the quality of life for all people affected by epilepsy through research, education and awareness, and community-building events. F.a.c.e.s. provides financial support and expertise for epilepsy research, free educational programs, and social opportunities for children and teens with epilepsy and their families. Donations directly fund medical research as well as temporary apartments for families who have traveled to New York for epilepsy treatment, airfare for children needing treatment, dedicated camps and camp scholarships, respite care, community and professional educational conferences, and social events, among other initiatives. Medscape recently discussed the efforts championed by f.a.c.e.s. with Dr. Orrin Devinsky, Director of the NYU Epilepsy Center.
The f.a.c.e.s. Web site provides downloadable documents describing and explaining the first aid for generalized and complex partial seizures, along with detailed descriptions of the various services and research that this initiative supports.
Medscape: The f.a.c.e.s. program seems to be quite unique among epilepsy initiatives in that it is so holistic, treating not only the patient's seizures but aggressively addressing the social sequelae and anxiety that can go hand in hand with epilepsy, both for the patient and the family. How did this program evolve?
Dr. Devinsky: F.a.c.e.s. began when a group of parents, adult patients, and doctors came together in 1994 to advance research, clinical care, and education, and to tackle the social and behavioral problems that complicate epilepsy. The group has grown in its scope and ambition. Funding for research projects has expanded more than 10-fold during the past decade. The f.a.c.e.s. group has also supported nontraditional approaches to treating epilepsy, including magnetic stimulation of the brain and neuro-electroencephalographic (EEG) feedback protocols, and recently organized a 3-day conference on Complementary and Alternative Therapies for Epilepsy with participants and contributors from around the world. The proceedings from that meeting will be published as a book within the next few months.
Medscape: Along with scientific research and a number of educational initiatives, f.a.c.e.s. also supports several summer camps, and sponsors social venues for parents and families as well as the patients themselves. Why this emphasis on opportunities for socializing and networking?
Dr. Devinsky: People think of epilepsy as "having seizures." However, for most patients, the disorder extends far beyond the seizures, which are often intermittent and brief. The disorder continues to carry a significant stigma. Sometimes when parents find out that their child's friend has epilepsy, they won't let their child socialize with that friend. So the condition can be isolating. In other cases, teachers or the police may have outdated misconceptions about epilepsy that lead them to socially or even physically endanger children and adults with epilepsy. Therefore, as much as we can, f.a.c.e.s. seeks to educate the public about epilepsy and to advance social and other programs to improve the quality of life for all those with epilepsy.
Medscape: The scientific research that you're involved in includes a large, multicenter study looking at the genetic underpinnings of intractable epilepsy and the genetic influences on responses to treatment; a brain "prosthesis" that will sense the onset of seizures and deliver antiepileptic agents directly to the seizure focus; and the use of magnetic resonance spectroscopy (MRS) to discern biochemical changes in the area of the seizure focus and investigate brain injury and recovery in epilepsy. Can you tell us more about these projects?
Dr. Devinsky: The hybrid neuroprosthesis is a miniature apparatus that combines electronic and pharmacologic devices placed within the brain. It monitors the activity of the area that generates seizures, analyzes the incoming signals, and delivers drug molecules into the impaired area to prevent seizures from occurring. Right now, we're focusing on treating epilepsy, but this device can eventually be of enormous benefit to patients with Parkinson's disease, Alzheimer's disease, and stroke victims.
The Epilepsy Phenome/Genome Project (EPGP) brings together 12 prominent epilepsy centers from around the United States. We're planning to recruit 5000 patients and 15,000 control subjects, to look at the relationship between the clinical (phenome) and genetic (genome) factors in those with seizures. This database will provide the infrastructure to develop more specific and effective therapies that can be tailored to an individual's seizure disorder. EPGP will help identify gene mutations that explain drug responsiveness, and look at the modifying factors that explain how the same "epilepsy gene" in 2 siblings can lead to varying degrees of epilepsy.
Finally, we will be evaluating the ability of MRS to determine the location of the seizure focus and to investigate brain-function recovery and injury in epilepsy. Alterations in the concentrations of chemicals provide a metabolic window of brain function and may permit us to better identify the seizure focus. MRS can already detect disturbances in tissue well before any structural changes are evident on magnetic resonance imaging (MRI), and MRS can also study brain neurotransmitters, such as GABA, the main inhibitory chemical in the brain, and glutamate, the major excitatory chemical. Eventually, MRS will offer a powerful view on how seizures affect brain metabolism and how metabolic disorders cause seizures.
Medscape: You've also been involved in a study that is using biofeedback to control seizures. Has biofeedback been used for seizures before? Can you describe this study? Do you have any preliminary results?
Dr. Devinsky: Biofeedback has been used in animal models and has been effective. These results have been published in prestigious scientific journals, such as Science .* There have been few clinical trials in patients, but none of these have been properly controlled. We are in the process of studying whether neuro-EEG feedback can help reduce seizure frequency or severity in some patients.
Medscape: Looking ahead, what experimental strategies appear to be the most promising for epilepsy treatment? Is a "magic bullet" anywhere on the horizon?
Dr. Devinsky: Epilepsy is a spectrum of disorders. So, it is unlikely that anyone will discover a magic bullet. But there are many new drugs in the pipeline, and several companies are actively testing seizure detection and prediction programs to provide "on-demand" treatment via electrical stimulation or directed drug delivery (as we are trying to do with our hybrid neuroprosthesis).
*For a review of the development of the technique of neurofeedback for epilepsy, see: Walker JE, Kozlowski GP. Neurofeedback treatment of epilepsy. Child Adolesc Psychiatr Clin N Am. 2005;14:163-176. Available at: https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15564057 Accessed March 31, 2005.
Medscape Neurology. 2005;7(1) © 2005 Medscape
Cite this: Finding a Cure for Epilepsy and Seizures: An Expert Interview With Orrin Devinsky, MD - Medscape - Apr 08, 2005.